Mutagenetix > Incidental Mutation

Incidental Mutation 'R8118:Cdk17'

631348

Institutional Source

Beutler Lab

Gene Symbol

Cdk17

Ensembl Gene

ENSMUSG00000020015

Gene Name

cyclin-dependent kinase 17

Synonyms

Pctk2, 6430598J10Rik

MMRRC Submission

067547-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.360) question?

Stock #

R8118 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93160875-93267071 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 93216390 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 111 (Q111K)

Ref Sequence

ENSEMBL: ENSMUSP00000070355 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069965] [ENSMUST00000213378] [ENSMUST00000215286]

AlphaFold

Q8K0D0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069965
AA Change: Q111K

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000070355
Gene: ENSMUSG00000020015
AA Change: Q111K

Domain	Start	End	E-Value	Type
S_TKc	192	473	4.67e-97	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000213378

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215286
AA Change: Q78K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.2%
20x: 91.1%

Validation Efficiency

97% (68/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It has similarity to a rat protein that is thought to play a role in terminally differentiated neurons. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	T	C	16: 85,795,933	D792G	probably damaging	Het
Adcy7	A	G	8: 88,315,756	H417R	probably damaging	Het
Agr2	A	G	12: 35,996,107	D79G	probably benign	Het
Ankle1	T	C	8: 71,407,635	S286P	probably benign	Het
Arhgef11	T	C	3: 87,735,857	S1488P	probably damaging	Het
Atp6v0a2	T	C	5: 124,712,773	M421T	probably damaging	Het
Cobl	A	G	11: 12,254,834	S623P	probably benign	Het
Dgka	C	T	10: 128,722,449		probably null	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Dsg2	A	G	18: 20,582,801	I267V	probably benign	Het
Exoc4	T	C	6: 33,971,918	Y899H	probably damaging	Het
Fat3	A	G	9: 15,960,104	F3664L	probably benign	Het
Fbxo47	C	T	11: 97,879,515	C17Y	probably benign	Het
Gm2888	G	T	14: 3,037,628	V207F	probably benign	Het
Gm7030	C	T	17: 36,127,690	V270M	probably damaging	Het
Gpr61	A	G	3: 108,150,572	S258P	probably damaging	Het
Hectd4	C	T	5: 121,286,376	H700Y	probably benign	Het
Hs3st2	C	T	7: 121,397,428	T154I	probably benign	Het
Inf2	A	T	12: 112,601,437	H167L	probably damaging	Het
Ints3	C	T	3: 90,400,299		probably null	Het
Ippk	C	T	13: 49,446,342	P226S		Het
Itgal	C	A	7: 127,311,245	Q509K	probably benign	Het
Klhl20	A	T	1: 161,098,401		probably null	Het
Krtap4-13	C	T	11: 99,809,398	C145Y	unknown	Het
Large1	A	G	8: 73,131,944	S99P	probably benign	Het
Lexm	T	A	4: 106,613,398	R192S	possibly damaging	Het
Lrba	A	T	3: 86,354,226	I1496L	probably benign	Het
Map2	A	T	1: 66,425,391	I1647F	probably damaging	Het
Map3k10	A	G	7: 27,673,417	V203A	possibly damaging	Het
Mcmdc2	T	A	1: 9,916,374	N166K	possibly damaging	Het
Mlxipl	T	G	5: 135,137,248	L828R	possibly damaging	Het
Mnat1	A	G	12: 73,219,090	I253V	probably benign	Het
Mtfp1	A	G	11: 4,093,910	S107P	probably damaging	Het
Nebl	T	A	2: 17,379,820	Y65F	possibly damaging	Het
Nelfb	A	T	2: 25,205,159	D339E	possibly damaging	Het
Nlrc3	T	A	16: 3,965,631	I20L	probably benign	Het
Nup205	T	A	6: 35,230,516	M1501K	probably benign	Het
Olfr1487	T	A	19: 13,619,745	N151K	probably damaging	Het
Olfr304	A	T	7: 86,385,768	C297*	probably null	Het
Olfr51	A	G	11: 51,007,500	H176R	probably damaging	Het
Olfr720	A	G	14: 14,175,863	I73T	probably damaging	Het
Olfr725	T	C	14: 50,035,151	D84G	probably benign	Het
Olfr998	T	A	2: 85,590,988	Y149*	probably null	Het
Palm3	A	G	8: 84,029,809	E650G	probably damaging	Het
Prps1l1	C	A	12: 34,985,341	L152M	probably damaging	Het
Rgs7bp	C	A	13: 105,053,121	V57F	probably damaging	Het
Scaf8	T	A	17: 3,164,183	V171D	unknown	Het
Sf3a2	T	C	10: 80,803,640	Y155H	probably damaging	Het
Sfrp1	T	G	8: 23,411,984	L67R	probably damaging	Het
Shank2	A	T	7: 144,409,875	I407L	probably benign	Het
Skint6	T	C	4: 112,865,675	T902A	possibly damaging	Het
Skint6	A	C	4: 113,156,494	S353R	possibly damaging	Het
Srrm2	T	A	17: 23,808,083	I87N	unknown	Het
Stard9	G	A	2: 120,704,430	G3723S	probably benign	Het
Svs3b	A	G	2: 164,256,006	S132P	probably damaging	Het
Tbc1d17	G	T	7: 44,843,002	F412L	probably benign	Het
Tex29	A	T	8: 11,854,263	E116D	unknown	Het
Tmem204	T	C	17: 25,080,338	D69G	possibly damaging	Het
Ttll10	G	A	4: 156,044,762	R308C	probably benign	Het
Ttn	T	A	2: 76,747,164	I24462F	probably damaging	Het
Tubg2	A	G	11: 101,161,478	E411G	probably damaging	Het
Ugt2b38	T	C	5: 87,423,771	N134S	probably damaging	Het
Usp31	T	C	7: 121,677,262	T351A	probably damaging	Het
Usp33	T	C	3: 152,360,359	L92S	probably damaging	Het
Vmn2r20	A	T	6: 123,396,470	I471N	probably damaging	Het
Wdfy4	G	A	14: 33,104,115	P1193L		Het
Wnk2	A	G	13: 49,090,983	V459A	probably damaging	Het

Other mutations in Cdk17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Cdk17	APN	10	93226771	missense	probably damaging	1.00
IGL00781:Cdk17	APN	10	93232416	missense	probably damaging	1.00
IGL01622:Cdk17	APN	10	93238962	unclassified	probably benign
IGL01623:Cdk17	APN	10	93238962	unclassified	probably benign
IGL01732:Cdk17	APN	10	93218045	missense	probably benign	0.01
IGL01768:Cdk17	APN	10	93208261	missense	probably damaging	0.99
IGL02942:Cdk17	APN	10	93238968	missense	probably benign
IGL03308:Cdk17	APN	10	93221644	critical splice donor site	probably null
delude	UTSW	10	93217961	splice site	probably null
Imagine	UTSW	10	93232415	missense	probably damaging	1.00
Magician	UTSW	10	93228703	missense	probably damaging	1.00
prestidigitator	UTSW	10	93226117	missense	probably damaging	1.00
R4436_Cdk17_536	UTSW	10	93211896	splice site	probably null
R0039:Cdk17	UTSW	10	93226778	splice site	probably benign
R0398:Cdk17	UTSW	10	93237840	missense	probably benign	0.01
R0432:Cdk17	UTSW	10	93237790	unclassified	probably benign
R0609:Cdk17	UTSW	10	93216472	missense	probably benign
R0781:Cdk17	UTSW	10	93239033	nonsense	probably null
R1110:Cdk17	UTSW	10	93239033	nonsense	probably null
R1604:Cdk17	UTSW	10	93232498	missense	probably damaging	1.00
R1674:Cdk17	UTSW	10	93221630	missense	probably benign	0.21
R1758:Cdk17	UTSW	10	93208250	missense	probably damaging	1.00
R1797:Cdk17	UTSW	10	93208252	missense	possibly damaging	0.76
R1864:Cdk17	UTSW	10	93226105	missense	probably damaging	1.00
R1924:Cdk17	UTSW	10	93226117	missense	probably damaging	1.00
R1929:Cdk17	UTSW	10	93228678	missense	probably damaging	1.00
R2143:Cdk17	UTSW	10	93218019	missense	probably damaging	1.00
R2207:Cdk17	UTSW	10	93228762	missense	probably damaging	1.00
R2261:Cdk17	UTSW	10	93211958	missense	possibly damaging	0.90
R2262:Cdk17	UTSW	10	93211958	missense	possibly damaging	0.90
R3737:Cdk17	UTSW	10	93221644	critical splice donor site	probably null
R3883:Cdk17	UTSW	10	93212077	critical splice donor site	probably null
R4436:Cdk17	UTSW	10	93211896	splice site	probably null
R5372:Cdk17	UTSW	10	93226039	missense	probably benign	0.03
R5444:Cdk17	UTSW	10	93217961	splice site	probably null
R5488:Cdk17	UTSW	10	93232412	missense	probably damaging	1.00
R5489:Cdk17	UTSW	10	93232412	missense	probably damaging	1.00
R5815:Cdk17	UTSW	10	93228697	missense	probably damaging	1.00
R6164:Cdk17	UTSW	10	93235469	missense	probably benign	0.26
R6209:Cdk17	UTSW	10	93208231	missense	probably benign	0.05
R6384:Cdk17	UTSW	10	93211965	missense	probably damaging	0.99
R6627:Cdk17	UTSW	10	93232412	missense	probably damaging	1.00
R6698:Cdk17	UTSW	10	93228678	missense	probably damaging	1.00
R7164:Cdk17	UTSW	10	93232481	missense	probably benign	0.07
R8096:Cdk17	UTSW	10	93216367	missense	probably damaging	0.98
R8459:Cdk17	UTSW	10	93232427	missense	probably damaging	0.99
R8670:Cdk17	UTSW	10	93226096	nonsense	probably null
R8722:Cdk17	UTSW	10	93228703	missense	probably damaging	1.00
R8829:Cdk17	UTSW	10	93207058	unclassified	probably benign
R9077:Cdk17	UTSW	10	93232415	missense	probably damaging	1.00
R9488:Cdk17	UTSW	10	93208204	missense	probably damaging	0.98
R9789:Cdk17	UTSW	10	93225029	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTACATGCCTGTGGATCTCG -3'
(R):5'- ACAGCTCTTGTGTGAGTTCC -3'

Sequencing Primer
(F):5'- GGATCTCGAGCATAGACGACTTTC -3'
(R):5'- GAGTTCCATTTGCCTTCATGATG -3'

Posted On

2020-06-30